SLC3A1 recombinant protein

Recombinant Human SLC3A1 protein, N- His Tag

Cat. Num. AAA157467

• Gene Names: SLC3A1; D2H; ATR1; NBAT; RBAT; CSNU1
• Purity: >90% as determined by SDS-PAGE
• Synonyms: SLC3A1; Recombinant Human SLC3A1 protein; N- His Tag; RBAT; SLC3A1 recombinant protein

• Host: E Coli
• Purity/Purification: >90% as determined by SDS-PAGE
• Form/Format: Lyophilized. Lyophilized from PBS pH 7.4, 0.2% NLS, 5% Trehalose, 5% Mannose, 1mM EDTA.

• Source: Human
• Reconstitution: Reconstitute in sterile water for a stock solution. A copy of datasheet will be provided with the products, please refer to it for details.
• Construction: A DNA sequence encoding the human SLC3A1 (Gly458~Leu607) was fused with the N-terminal His Tag
• Preparation and Storage: Use a manual defrost freezer and avoid repeated freeze thaw cycles. Store at 2 to 8 degree C for one week. Store at -20 to -80 degree C for ~12 months from the date of receipt.; Reconstitute in sterile water for a stock solution. A copy of datasheet will be provided with the products, please refer to it for details.; In general, proteins are provided as lyophilized powder/frozen liquid. They are shipped out with dry ice/blue ice unless customers require otherwise

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Product Categories/Family for SLC3A1 recombinant protein

Protein

NCBI and Uniprot Product Information

• NCBI GI #: 68303923
• NCBI GeneID: 6519
• UniProt Accession #: Q07837; O00658; Q15295; Q52M92; Q52M94; A8K0S1
• Molecular Weight: 78,852 Da
• NCBI Official Full Name: SLC3A1 variant G
• NCBI Official Synonym Full Names: solute carrier family 3 (amino acid transporter heavy chain), member 1
• NCBI Official Symbol: SLC3A1
• NCBI Official Synonym Symbols: D2H; ATR1; NBAT; RBAT; CSNU1
• NCBI Protein Information: neutral and basic amino acid transport protein rBAT; SLC3A1 variant B; SLC3A1 variant C; SLC3A1 variant D; SLC3A1 variant E; SLC3A1 variant F; SLC3A1 variant G; amino acid transporter 1; solute carrier family 3 member 1; B(0,+)-type amino acid transport p
• UniProt Protein Name: Neutral and basic amino acid transport protein rBAT
• Protein Family: Neutral and basic amino acid transport protein
• UniProt Gene Name: SLC3A1
• UniProt Synonym Gene Names: RBAT; NBAT
• UniProt Entry Name: SLC31_HUMAN

NCBI Description

This gene encodes a type II membrane glycoprotein which is one of the components of the renal amino acid transporter which transports neutral and basic amino acids in the renal tubule and intestinal tract. Mutations and deletions in this gene are associated with cystinuria. Alternatively spliced transcript variants have been described, but their biological validity has not been determined. [provided by RefSeq, Jul 2008]

Uniprot Description

Function: Involved in the high-affinity, sodium-independent transport of cystine and neutral and dibasic amino acids (system B(0,+)-like activity). May function as an activator of SLC7A9 and be involved in the high-affinity reabsorption of cystine in the kidney tubule. Ref.1 Ref.3 Ref.4 Ref.6

Subunit structure: Disulfide-linked heterodimer with the amino acid transport protein SLC7A9. Ref.11

Subcellular location: Membrane; Single-pass type II membrane protein

Potential.

Tissue specificity: Predominantly expressed in the kidney, small intestine and pancreas. Weakly expressed in liver. Ref.1 Ref.3

Involvement in disease: Cystinuria (CSNU) [MIM:220100]: An autosomal disorder characterized by impaired epithelial cell transport of cystine and dibasic amino acids (lysine, ornithine, and arginine) in the proximal renal tubule and gastrointestinal tract. The impaired renal reabsorption of cystine and its low solubility causes the formation of calculi in the urinary tract, resulting in obstructive uropathy, pyelonephritis, and, rarely, renal failure.Note: The disease is caused by mutations affecting the gene represented in this entry. Ref.5 Ref.12 Ref.14 Ref.15 Ref.16 Ref.17 Ref.18 Ref.19 Ref.20Hypotonia-cystinuria syndrome (HCS) [MIM:606407]: Characterized generalized hypotonia at birth, nephrolithiasis, growth hormone deficiency, minor facial dysmorphism, failure to thrive, followed by hyperphagia and rapid weight gain in late childhood.Note: The disease is caused by mutations affecting the gene represented in this entry. Ref.12 Ref.13